Aliases for BSPH1 Gene

Aliases for BSPH1 Gene

  • Binder Of Sperm Protein Homolog 1 2 3 4 5
  • Bovine Seminal Plasma Protein Homolog 1 2 3 4
  • Bovine Seminal Plasma Protein-Like 1 3 4
  • Epididymal Sperm Binding Protein 2 2 3
  • ELSPBP2 2 3
  • BSP1 2 3
  • Binder Of Sperm 1 3
  • BSPH1 5

External Ids for BSPH1 Gene

Previous GeneCards Identifiers for BSPH1 Gene

  • GC19M053163
  • GC19M048471
  • GC19M044853

Summaries for BSPH1 Gene

GeneCards Summary for BSPH1 Gene

BSPH1 (Binder Of Sperm Protein Homolog 1) is a Protein Coding gene. Diseases associated with BSPH1 include Spherocytosis, Type 1 and Gerstmann-Straussler Disease. Gene Ontology (GO) annotations related to this gene include heparin binding. An important paralog of this gene is ELSPBP1.

UniProtKB/Swiss-Prot Summary for BSPH1 Gene

  • Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BSPH1 Gene

Genomics for BSPH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BSPH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J047991 Enhancer 0.7 FANTOM5 689.4 +0.8 811 0.2 ZNF512 IKZF1 PRDM1 ZNF600 ZSCAN18 ZBTB11 WT1 ZFHX2 ZNF366 ZNF398 BSPH1 ELSPBP1 piR-34822-164 SULT2A1
GH19J047963 Enhancer 0.8 ENCODE 11.6 +28.8 28821 0.2 CTCF ZNF629 ZNF692 ZIC2 PKNOX1 POLR2A ZNF24 REST RAD21 ZNF501 BSPH1 PLA2G4C ELSPBP1 CABP5 SULT2A1 LMTK3 SYNGR4 TMEM143 SNAR-C1 piR-34822-164
GH19J048267 Enhancer 0.9 Ensembl ENCODE 9.7 -275.1 -275079 0.7 CTCF IKZF1 PRDM1 ZNF143 REST RAD21 TRIM22 ZNF561 ZNF524 KLF7 SULT2B1 SYNGR4 TMEM143 BSPH1 ELSPBP1 CCDC114 PLA2G4C ZNF114 piR-47693-007 CARD8
GH19J048091 Enhancer 0.7 Ensembl ENCODE 10.9 -99.1 -99131 1 PKNOX1 ZFHX2 POLR3A BHLHE40 NR2F1 ZNF384 TCF7L2 JUND PRDM10 FOS lnc-LIG1-3 PLA2G4C CABP5 BSPH1 ELSPBP1 NAPA SULT2A1 LMTK3 piR-37472-003
GH19J048264 Enhancer 0.4 FANTOM5 10.1 -272.5 -272455 0.3 IKZF1 STAT1 CEBPB SULT2B1 SYNGR4 TMEM143 PLA2G4C ELSPBP1 BSPH1 ZNF114 piR-47693-007 CARD8 ZNF114-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BSPH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BSPH1

Top Transcription factor binding sites by QIAGEN in the BSPH1 gene promoter:
  • GATA-1
  • GATA-2
  • GR-alpha
  • GR-beta
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU3F1

Genomic Locations for BSPH1 Gene

Genomic Locations for BSPH1 Gene
chr19:47,967,258-47,992,170
(GRCh38/hg38)
Size:
24,913 bases
Orientation:
Minus strand
chr19:48,471,303-48,495,427
(GRCh37/hg19)
Size:
24,125 bases
Orientation:
Minus strand

Genomic View for BSPH1 Gene

Genes around BSPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BSPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BSPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BSPH1 Gene

Proteins for BSPH1 Gene

  • Protein details for BSPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q075Z2-BSPH1_HUMAN
    Recommended name:
    Binder of sperm protein homolog 1
    Protein Accession:
    Q075Z2
    Secondary Accessions:
    • A6NIZ5

    Protein attributes for BSPH1 Gene

    Size:
    132 amino acids
    Molecular mass:
    15693 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BSPH1 Gene

Post-translational modifications for BSPH1 Gene

  • Glycosylation at Asn53
  • Modification sites at PhosphoSitePlus

Other Protein References for BSPH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BSPH1 Gene

Domains & Families for BSPH1 Gene

Gene Families for BSPH1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for BSPH1 Gene

InterPro:
Blocks:
  • Type II fibronectin collagen-binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for BSPH1 Gene

GenScript: Design optimal peptide antigens:
  • Bovine seminal plasma protein homolog 1 (BSPH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q075Z2

UniProtKB/Swiss-Prot:

BSPH1_HUMAN :
  • Belongs to the seminal plasma protein family.
Family:
  • Belongs to the seminal plasma protein family.
genes like me logo Genes that share domains with BSPH1: view

Function for BSPH1 Gene

Molecular function for BSPH1 Gene

UniProtKB/Swiss-Prot Function:
Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B.

Phenotypes From GWAS Catalog for BSPH1 Gene

Gene Ontology (GO) - Molecular Function for BSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008201 heparin binding IBA 21873635
genes like me logo Genes that share ontologies with BSPH1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSPH1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BSPH1 Gene

Localization for BSPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BSPH1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BSPH1 gene
Compartment Confidence
extracellular 4
cytoskeleton 1
nucleus 1
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for BSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA 21873635
genes like me logo Genes that share ontologies with BSPH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BSPH1 Gene

Pathways & Interactions for BSPH1 Gene

PathCards logo

SuperPathways for BSPH1 Gene

No Data Available

Interacting Proteins for BSPH1 Gene

Gene Ontology (GO) - Biological Process for BSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization IEA --
GO:0048240 sperm capacitation IBA 21873635
genes like me logo Genes that share ontologies with BSPH1: view

No data available for Pathways by source and SIGNOR curated interactions for BSPH1 Gene

Drugs & Compounds for BSPH1 Gene

No Compound Related Data Available

Transcripts for BSPH1 Gene

mRNA/cDNA for BSPH1 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSPH1

Alternative Splicing Database (ASD) splice patterns (SP) for BSPH1 Gene

No ASD Table

Relevant External Links for BSPH1 Gene

GeneLoc Exon Structure for
BSPH1

Expression for BSPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BSPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for BSPH1 Gene

This gene is overexpressed in Brain - Cerebellum (x19.9), Brain - Cerebellar Hemisphere (x16.3), and Brain - Spinal cord (cervical c-1) (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BSPH1

SOURCE GeneReport for Unigene cluster for BSPH1 Gene:

Hs.651072

mRNA Expression by UniProt/SwissProt for BSPH1 Gene:

Q075Z2-BSPH1_HUMAN
Tissue specificity: Expressed only in the epididymis.
genes like me logo Genes that share expression patterns with BSPH1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BSPH1 Gene

Orthologs for BSPH1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BSPH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BSPH1 30 31
  • 98.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BSPH1 30
  • 78.76 (n)
BSP1 31
  • 37 (a)
OneToMany
BSP3 31
  • 34 (a)
OneToMany
BSP5 31
  • 26 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia BSPH1 30 31
  • 77.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bsph1 30 17 31
  • 71.79 (n)
OneToOne
Species where no ortholog for BSPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BSPH1 Gene

ENSEMBL:
Gene Tree for BSPH1 (if available)
TreeFam:
Gene Tree for BSPH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BSPH1: view image

Paralogs for BSPH1 Gene

Paralogs for BSPH1 Gene

(2) SIMAP similar genes for BSPH1 Gene using alignment to 1 proteins:

  • BSPH1_HUMAN
genes like me logo Genes that share paralogs with BSPH1: view

Variants for BSPH1 Gene

Additional dbSNP identifiers (rs#s) for BSPH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BSPH1 Gene

Variant ID Type Subtype PubMed ID
dgv3609n100 CNV loss 25217958
esv2660721 CNV deletion 23128226
esv2718670 CNV deletion 23290073
esv3556498 CNV deletion 23714750
nsv1055235 CNV loss 25217958
nsv1058622 CNV gain 25217958
nsv1065730 CNV loss 25217958
nsv1125501 CNV deletion 24896259
nsv1160654 CNV deletion 26073780
nsv180 CNV insertion 15895083
nsv2513 CNV deletion 18451855
nsv2515 CNV insertion 18451855
nsv428367 CNV gain+loss 18775914
nsv833853 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for BSPH1 Gene

Gene Damage Index Score: 2.69; 46.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BSPH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BSPH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BSPH1 Gene

Disorders for BSPH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BSPH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 1
  • sph1
gerstmann-straussler disease
  • gsd
- elite association - COSMIC cancer census association via MalaCards
Search BSPH1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with BSPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BSPH1 Gene

Publications for BSPH1 Gene

  1. Genomic structure and tissue-specific expression of human and mouse genes encoding homologues of the major bovine seminal plasma proteins. (PMID: 17085770) Lefebvre J … Manjunath P (Molecular human reproduction 2007) 2 3 4
  2. New nomenclature for mammalian BSP genes. (PMID: 18923155) Manjunath P … Wright MW (Biology of reproduction 2009) 2 3
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4
  4. Implication of the human Binder of SPerm Homolog 1 (BSPH1) protein in capacitation. (PMID: 24435510) Plante G … Manjunath P (Molecular human reproduction 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for BSPH1 Gene

Sources for BSPH1 Gene